The second edition of Primary Immunodeficiency Diseases presents discussions of gene identification, mutation detection, and clinical and research applications for over 100 genetic immune disorders - disorders featuring an increased susceptibility to infections and, in, certain conditions, an increased rate of malignancies and autoimmune disorders. Since the publication of the first edition, a flurry of new disease entities has been defined and new treatment regimens have beenintroduced, the most spectacular being successful treatment by gene therapy for two genotypes of combined immunodeficiency. The first edition marked a historic turning point in the field of immunodeficiencies, demonstrating that many of the disorders of the immune system could be understood at a molecularlevel. This new edition can proudly document the tremendous pace of progress in dissecting the complex immunologic networks responsible for protecting individuals from these disorders.
Part I Overview; Genetically Determined Immunodeficiency Diseases: A Perspective; Genetic Principles and Technologies in the Study of Immune Disorders; Mammalian Hematopoietic Development and Function; T Cell Development; Molecular Mechanisms Guiding B Cell Development; Signal Transduction by T and B Lymphocyte Antigen Receptors; Lymphoid Organ Development, Cell Trafficking, and Lymphocyte Responses; Phagocytic System; Part II Syndromes; X-linked Severe Combined Immunodeficiency; Autosomal Recessive Severe Combined Immunodeficiency Due to Defects in Cytokine Signaling Pathways; V(D)J Recombination Defects; Immunodeficiency Due to Defects of Purine Metabolism; Severe Combined Immunodeficiency Due to Mutations in the CD45 Gene; Severe Combined Immunodeficiency Due to Defects in T Cell Receptor-Associated Protein Kinases; Human Interleukin-2 Receptor Alpha Deficiency; CD3 and CD8 Deficiencies; Molecular Basis of Major Histocompatibility Complex Class II Deficiency; Peptide Transporter Defects in Human Leukocyte Antigen Class I Deficiency; CD40, CD40 Ligand, and the Hyper-IgM Syndrome; Autosomal Hyper-IgM Syndromes Caused by an Intrinsic B Cell Defect; X-linked Agammaglobulinemia: A Disease of Btk Tyrosine Kinase; Autosomal Recessive Agammaglobulinemia; Genetic Approach to Common Variable Immunodeficiency and IgA Deficiency; Autoimmune Lymphoproliferative Syndrome; Autoimmune Polyendocrinopathy, Candidiasis, Ectodermal Dystrophy; Immune Dysregulation, Polyendocrinopathy, Enteropathy, and X-Linked Inheritance; Periodic Fever Syndromes; Inherited Disorders of the Interleukin-12/23-Interferon Gamma Axis; Ataxia-Telangiectasia; Chromosomal Instability Syndromes Other Than Ataxia-Telangiectasia; Wiskott-Aldrich Syndrome; X-linked Lymphoproliferative Disease due to Defects of SH2D1A; DiGeorge Syndrome: A Chromosome 22q11.2 Deletion Syndrome; Hyper-IgE Recurrent Infection Syndromes; Immunodeficiency with Centromere Instability and Facial Anomalies; Immunodeficiencies with Associated Manifestations of Skin, Hair, Teeth, and Skeleton; Chronic Granulomatous Disease; Cell Adhesion and Leukocyte Adhesion Defects; Cyclic and Congenital Neutropenia Due to Defects in Neutrophil Elastase; Chediak-Higashi Syndrome; Inherited Hemophagocytic Syndromes; Genetically Determined Deficiencies of the Complement System; Part III Assessment and Treatment; Assessment of the Immune System; Genetic Aspects of Primary Immunodeficiencies; Immunodeficiency Information Systems; Conventional Therapy of Primary Immunodeficiency Diseases; Bone Marrow Transplantation for Primary Immunodeficiency Diseases; Gene Therapy;
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